Variant position: 3048 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4646 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TLMTQCKEGAQKEGLMLDSH EELYKWFTSQVIRNLHVVFTM
Mouse TLMTQCKEGAQKEGLMLDSH EELYKWFTSQVIRNLHVVFTM
Rat TLMTQCKEGAQKEGLMLDSH EELYKWFTSQVIRNLHVVFTM
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 4646 Cytoplasmic dynein 1 heavy chain 1
2899 – 3168 AAA 4
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
Fiorillo C.; Moro F.; Yi J.; Weil S.; Brisca G.; Astrea G.; Severino M.; Romano A.; Battini R.; Rossi A.; Minetti C.; Bruno C.; Santorelli F.M.; Vallee R.;
Hum. Mutat. 35:298-302(2014)
Cited for: VARIANTS CMT2O ARG-1194 AND LYS-3048; CHARACTERIZATION OF VARIANTS CMT2O ARG-1194 AND LYS-3048;
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